- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2614)
- Abnormal digit morphology (HP:0011297): A morphological abnormality of a digit, i.e., of a finger or toe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2614)
- Abnormality of the kidney (HP:0000077): An abnormality of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Abnormality of the knee (HP:0002815): An abnormality of the knee joint or surrounding structures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Decreased muscle mass (HP:0003199). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Abnormal iris pigmentation (HP:0008034): Abnormal pigmentation of the iris. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Equinovarus deformity (HP:0008110). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Iliac horns (HP:0009780): Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Abnormality of the elbow (HP:0009811): An anomaly of the joint that connects the upper and the lower arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Abnormal gastrointestinal tract morphology (HP:0012718): Abnormal structure of the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Fingernail dysplasia (HP:0100798): An abnormality of the development of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2614)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Nephritis (HP:0000123): The presence of inflammation affecting the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Hematuria (HP:0000790): The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Achilles tendon contracture (HP:0001771): A contracture of the Achilles tendon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Talipes equinovalgus (HP:0001772): A deformity of foot and ankle in which the foot is bent down and outwards. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Talipes calcaneovalgus (HP:0001884): Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an "up and out" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Abnormal femur morphology (HP:0002823): Any anomaly of the structure of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Abnormal tibia morphology (HP:0002992): Abnormality of the tibia (shinbone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Abnormal patella morphology (HP:0003045): Abnormality of the patella (knee cap). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Patellar hypoplasia (HP:0003065): Underdevelopment of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Spondylolisthesis (HP:0003302): Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Spondylolysis (HP:0003304): Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Stage 5 chronic kidney disease (HP:0003774): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Thickened glomerular basement membrane (HP:0004722): Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Proximal finger joint hyperextensibility (HP:0005190). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Knee flexion contracture (HP:0006380): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Limited pronation/supination of forearm (HP:0006394): A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Patellar aplasia (HP:0006443): Absence of the patella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Ocular hypertension (HP:0007906): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Primary congenital glaucoma (HP:0008007). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Talipes calcaneovarus (HP:0008124): A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Contracture of the distal interphalangeal joint of the fingers (HP:0009697): Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Antecubital pterygium (HP:0009760): Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Lester's sign (HP:0009781): A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- High anterior hairline (HP:0009890): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Osteochondritis dissecans (HP:0010886): A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Open angle glaucoma (HP:0012108): A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure,. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Tip-toe gait (HP:0030051): An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Knee pain (HP:0030839): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Acroparesthesia (HP:0031006): A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Abnormal cranial nerve physiology (HP:0031910): A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Knee joint hypermobility (HP:0045086): The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Toenail dysplasia (HP:0100797): An abnormality of the development of the toenails. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2614)
- Abnormality of the vasculature (HP:0002597): An abnormality of the vasculature. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2614)
- Internal carotid artery hypoplasia (HP:0005290). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2614)
- Coronary artery dissection (HP:0006702): Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2614)
These phenotypes are associated with the disease Nail-patella syndrome (ORPHA:2614).